Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818880C>A , CM000671.2:g.129818880C>A | GRCh38 |
| NC_000009.11:g.132581159C>A , CM000671.1:g.132581159C>A | GRCh37 |
| NC_000009.10:g.131620980C>A | NCBI36 |
| NG_008049.1:g.10283G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.485G>T MANE Select | ENSP00000345719.4:p.Cys162Phe | |
| ENST00000651202.1:c.581G>T | ENSP00000498222.1:p.Cys194Phe | |
| ENST00000351698.4:c.485G>T | ENSP00000345719.4:p.Cys162Phe | |
| ENST00000473604.2:n.595G>T | ||
| NM_000113.2:c.485G>T | NP_000104.1:p.Cys162Phe | |
| XR_929731.1:n.645G>T | ||
| XR_929731.3:n.513G>T | ||
| NM_000113.3:c.485G>T MANE Select | NP_000104.1:p.Cys162Phe |